The traditional annual health check for executives is changing. While all the usual tests are still being used, for the first time there will be an option for whole genome sequencing too.

This new generation testing began in Sydney this week and, though it has the potential to add tremendous value – and can already add some value – it is early days and there are issues for participants to consider.

The service, called GoNavigate, is a private partnership operating from the St Vincent's campus in Sydney. It checks people from their diet to their DNA.

It combines the genomics expertise of the Garvan Institute for Medical Research and that of Executive Health Solutions, which has provided health checks for corporates in Australia for more than 30 years.

Participants will only receive genetic information that can be acted upon.
Virginia Star

Although anyone who is curious about their health can use the service, at a cost of $6400 (excluding GST), with no Medicare rebate, it is likely to be used mostly by corporates.

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It's predicted that one day whole genome sequencing will be routine and babies will have it done at birth. But getting there is complicated and costly.

A few years ago the Mayo Clinic in the US identified executives as the ideal population group to lead the rest of us into the new world of genomic medicine.

Perfect pioneers

Executives were the perfect pioneers; they could afford it, they were already on health check programs and as "early adapters" they were willing to embrace the new culture of genomics.

And they would be attracted by the double benefit: the immediate benefits for their own health and the "heritage" benefits for their children and grandchildren.

While many places in Australia offer some genetic testing to patients, the Garvan is the only place that can sequence the entire genome in a clinical setting.

Now through a commercial partnership between its own company, Genome.One and Executive Health Solutions' corporate clinic, Life First, whole genome sequencing is available to the public.

Their joint service, GoNavigate, is the first attempt in Australia to embed whole genome sequencing in a comprehensive medical check. It's ambitious because genomic knowledge is still limited, although it is evolving fast.

While GoNavigate will sequence a person's whole genome and screen all 20,000 genes, presently it can only interpret 230 of them.

But the sequencing creates a lasting resource that can be mined repeatedly as knowledge grows. This means when the person returns a year or two later, more interpretations may be possible. This and subsequent checks will be far cheaper because the sequencing is already done.

Monitoring and intervention

From the current 230 genes this service can detect increased genetic risk for more than 49 conditions which include 31 types of cancer and 13 heart conditions where monitoring and intervention can be of benefit.

It can also predict the person's response to more than 220 medications.

While only 5 to 10 per cent of participants are expected to discover a genetic variation that increases their health risk, almost all will receive some information that can help to refine their choice of medications.

"Genetic information provides an entirely new dimension to understand your health – but its value is best realised in the context of other health data," says Marcel Dinger, associate professor at the Garvan and CEO of Genome.One.

The next generation of healthcare is about prevention. He says it is about knowing what you are facing and then trying to prevent it. Genomics is a crucial part of this.

But do people want to know what is lurking in their genes? If something untoward is found, under what conditions would they be obliged to disclose it to their employer or insurance company?

These are complex issues which the service can help answer. Dinger says all information will remain strictly confidential between the service and the participant.

In addition, the service will not provide genetic information where no evidence-based lifestyle change or treatment is possible. A genetic counsellor makes this clear to participants at the outset.

Precautionary action

While the sequencing can't diagnose cancer, it can tell if a person has a predisposition to a cancer and alert them to the value of possible precautionary action to prevent or detect it as early as possible.

A common example would involve cholesterol. A person with fluctuating high cholesterol on blood tests may be undecided about whether to try to control it with a statin. These drugs are taken over the long term and have side effects.

In recent times people have begun questioning whether they really need them. If the genetic test shows they have familial high cholesterol, then the case for taking these drugs is stronger.

"The extra genetic layer provides a more certain diagnosis of particular conditions that otherwise wouldn't be available. It allows people to have more confidence in the result," says Dinger. "And as new treatments grow for existing diseases and as we get better at identifying new diseases, so the importance of that genetic layer will increase."

Five per cent of Genome.One's revenue from this service will be dedicated to iHope, which is for families with rare and genetic conditions who can't afford genomic diagnosis.